Dystonias

Last reviewed: 7 Jan 2023
Last updated: 27 Jan 2023

Summary

Definition

History and exam

Key diagnostic factors

  • simultaneous contraction of agonist and antagonist muscles
  • muscle pain
  • appearance or worsening of dystonia with action
  • blepharospasm
  • cervical torticollis
  • hand spasms
  • foot spasms
More key diagnostic factors

Other diagnostic factors

  • twisting of the affected body part
  • geste antagoniste (sensory trick)
  • spread to another body part
  • parkinsonism
  • myoclonus
  • tremor, weakness, or spasticity
  • Kayser-Fleischer rings on slit-lamp examination
  • acute presentation (within 5 days of exposure to antidopaminergic agent)
  • acute worsening of pre-existing generalized dystonia
Other diagnostic factors

Risk factors

  • family history of dystonia
  • repetitive activity of affected region
  • birth injury and delayed development in childhood
  • exposure to antidopaminergic agents
  • trauma
  • genetic mutation
  • Ashkenazi Jewish ethnicity
  • structural lesion of the basal ganglia
  • parkinsonian syndrome
More risk factors

Diagnostic investigations

1st investigations to order

  • levodopa responsiveness
More 1st investigations to order

Investigations to consider

  • cranial magnetic resonance imaging
  • serum ceruloplasmin
  • 24-hour urine copper
  • TOR1A (also known as DYT1) gene testing
  • GCH1 gene testing
More investigations to consider

Treatment algorithm

ACUTE

acute dystonic reactions

ONGOING

generalized dystonia

focal dystonia: other than adult isolated foot

adult isolated foot dystonia

Contributors

Authors

Ludy C. Shih, MD, MMSc

Associate Professor of Neurology

Department of Neurology

Boston University School of Medicine

Boston

MA

Disclosures

LCS has been reimbursed by Medtronic, Praxis Precision Medicines, and WCG-Medavante for consulting services. LCS has received research grant funding from the National Institutes of Health, Abbott, and Praxis Precision Medicines.

Acknowledgements

Dr Ludy C. Shih would like to gratefully acknowledge Dr Samuel Frank, Dr David K. Simon, and Dr Daniel Tarsy, previous contributors to this topic.

Disclosures

SF is employed by the Beth Israel Deaconess Medical Center, which has received funding from Allergan to support partial fellowship training. DKS has received consulting fees from the Gerson Lehrman Group. DKS is an author of a reference cited in this topic. DT has received an unrestricted grant from Allergan and Medtronic being used for education. He received unrestricted funds for patient education from Allergan, Boehringer Ingelheim, Valeant, and Teva Neurosciences. He has received research funds from Solvay and Neurogen. DT is an author of a number of references cited in this topic.

Peer reviewers

Patricia Dowsey Limousin, MD, PhD

Reader in Clinical Neurology

Honorary Consultant

Institute of Neurology

National Hospital for Neurology and Neurosurgery

London

UK

Disclosures

PDL declares that she has no competing interests.

Zhigoa Huang, MD, PhD

Assistant Professor

Director

Movement Disorder Center

Dept of Neurology

University of Florida

Tampa

FL

Disclosures

ZH has been a consultant for Allergan and a speaker for Novartis and TEVA.

  • Dystonias images
  • Differentials

    • Athetoid or spastic cerebral palsy
    • Huntington disease (HD)
    • Parkinson disease (PD) or atypical parkinsonism
    More Differentials
  • Guidelines

    • Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache
    More Guidelines
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